GUCY2D (Retinal guanylyl cyclase 1) variants and mutations
GUCY2D (also known as Retinal guanylyl cyclase 1) is a human protein-coding gene encoding a retinal guanylyl cyclase 1 protein. A retinal guanylate cyclase that restores cGMP levels in rod and cone photoreceptors during visual signaling. Biallelic pathogenic variants commonly cause Leber congenital amaurosis, while certain dominant variants cause cone-rod dystrophy. This analysis covers 2,034 GUCY2D variants and mutations. Of these, 98% have computational variant effect predictions. Disease context includes Leber congenital amaurosis 1, cone-rod dystrophy 6, and Leber congenital amaurosis. Example GUCY2D variants include M1I, M1K, and M1V.
Variant analysis overview
- Gene: GUCY2D
- Protein: Retinal guanylyl cyclase 1
- UniProt accession: Q02846
- Organism: Homo sapiens
- Variants analyzed: 2034
- Variant scope: all variants
- Completed: 2026-10-09
Variant and mutation evidence
- Variant composition: 1,590 unspecified-consequence records; 322 missense variants; 148 synonymous variants; 29 frameshift variants; 9 in-frame deletions; 7 stop-gained variants; 2 substitution
- Prediction scores: 1,993 variants have prediction scores (98% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Leber congenital amaurosis 1, cone-rod dystrophy 6, Leber congenital amaurosis, cone-rod dystrophy, GUCY2D-related recessive retinopathy, choroidal dystrophy, central areolar, 1, inherited retinal dystrophy, retinitis pigmentosa, cone dystrophy, retinal disorder, hereditary disease, severe early-childhood-onset retinal dystrophy.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 2 domains; 1 post-translational modification sites.
- Structural context: 579 variants have structural context.
- PTM context: 1 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Diseases linked to GUCY2D
Notable GUCY2D variants
Examples include M1I, M1K, M1V, T2S, T2I, T2T, A3T, A3S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs281865409, ClinGen CA226146, ClinVar RCV000084899, ClinVar RCV001250812, ESM-1b 1.00, AlphaMissense 0.51, Pathogenic, GUCY2D-related recessive retinopathy
- M1K (p.Met1Lys), rs281865408, ClinGen CA226114, ClinVar RCV000084880, ClinVar RCV001250811, ESM-1b 1.00, AlphaMissense 0.42, Pathogenic, Leber congenital amaurosis 1
- M1V (p.Met1Val), rs1424348888, ClinGen CA397942217, ClinVar RCV002250039, ClinVar RCV003774717, ESM-1b 0.58, AlphaMissense 0.11, Pathogenic, Leber congenital amaurosis 1; GUCY2D-related disorders; Cone-rod dystrophy 6
- T2S (p.Thr2Ser), gnomAD 17-8003051-A-T, REVEL 0.20, ESM-1b 0.00
- T2I (p.Thr2Ile), gnomAD 17-8003052-C-T, REVEL 0.16, ESM-1b 0.47
- T2T (p.Thr2Thr), gnomAD 17-8003053-C-T, CADD 10.10
- A3T (p.Ala3Thr), gnomAD 17-8003054-G-A, REVEL 0.23, ESM-1b 0.00
- A3S (p.Ala3Ser), gnomAD 17-8003054-G-T, REVEL 0.25, ESM-1b 0.00
- A3D (p.Ala3Asp), gnomAD 17-8003055-C-A, REVEL 0.43, ESM-1b 0.32
- C4G (p.Cys4Gly), gnomAD rs1893310079, REVEL 0.16, ESM-1b 0.00
- C4Y (p.Cys4Tyr), rs764072081, ClinGen CA8365465, ClinVar RCV002900451, 1000Genomes rs764072081, REVEL 0.19, ESM-1b 0.48, Benign, Leber congenital amaurosis 1; Cone-rod dystrophy 6; not specified
- C4S (p.Cys4Ser), gnomAD 17-8003057-T-A, REVEL 0.10, ESM-1b 0.00
- C4F (p.Cys4Phe), gnomAD 17-8003058-G-T, REVEL 0.20, ESM-1b 0.00
- C4C (p.Cys4Cys), gnomAD 17-8003059-C-T, CADD 11.60
- A5T (p.Ala5Thr), rs1975657312, ClinGen CA397942285, ClinVar RCV001205998, NCI-TCGA TCGA novel, REVEL 0.10, ESM-1b 0.00, Uncertain significance, Leber congenital amaurosis 1; Cone-rod dystrophy 6
- A5S (p.Ala5Ser), gnomAD 17-8003060-G-T, REVEL 0.11, ESM-1b 0.00
- A5V (p.Ala5Val), gnomAD 17-8003061-C-T, REVEL 0.11, ESM-1b 0.00
- A5D (p.Ala5Asp), gnomAD 17-8003061-C-A, REVEL 0.09, ESM-1b 0.28
- A5A (p.Ala5Ala), gnomAD 17-8003062-C-T, CADD 13.60
- R6C (p.Arg6Cys), rs1975657387, ClinGen CA397942302, ClinVar RCV001889960, ClinVar RCV004980848, REVEL 0.19, ESM-1b 0.00, Uncertain significance, Cone-rod dystrophy 6; Leber congenital amaurosis 1; Inborn genetic diseases
- R6S (p.Arg6Ser), gnomAD 17-8003063-C-A, REVEL 0.20, ESM-1b 0.00
- R6H (p.Arg6His), gnomAD 17-8003064-G-A, REVEL 0.21, ESM-1b 0.03
- R6L (p.Arg6Leu), gnomAD 17-8003064-G-T, REVEL 0.15, ESM-1b 0.00
- R6P (p.Arg6Pro), gnomAD 17-8003064-G-C, REVEL 0.16, ESM-1b 0.00
- R6R (p.Arg6Arg), gnomAD 17-8003065-C-T, CADD 13.50
- R7G (p.Arg7Gly), gnomAD 17-8003066-C-G, REVEL 0.19, ESM-1b 0.00
- R7R (p.Arg7Arg), rs1490881491, gnomAD 17-8003066-C-A, CADD 13.30
- R7L (p.Arg7Leu), gnomAD 17-8003067-G-T, REVEL 0.10, ESM-1b 0.00
- R7Q (p.Arg7Gln), gnomAD 17-8003067-G-A, REVEL 0.12, ESM-1b 0.00
- A8E (p.Ala8Glu), TOPMed rs1485169567, ESM-1b 0.00, AlphaMissense 0.10
- A8V (p.Ala8Val), rs1485169567, TOPMed rs1485169567, REVEL 0.12, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- A8T (p.Ala8Thr), gnomAD 17-8003069-G-A, REVEL 0.15, ESM-1b 0.00
- A8G (p.Ala8Gly), gnomAD 17-8003070-C-G, REVEL 0.15, ESM-1b 0.00
- A8A (p.Ala8Ala), rs987666168, gnomAD 17-8003071-G-T, CADD 9.61
- G9V (p.Gly9Val), gnomAD rs1262404909, REVEL 0.36, ESM-1b 0.00
- G9C (p.Gly9Cys), gnomAD 17-8003072-G-T, REVEL 0.37, ESM-1b 0.00
- G9S (p.Gly9Ser), gnomAD 17-8003072-G-A, REVEL 0.27, ESM-1b 0.00
- G9D (p.Gly9Asp), gnomAD 17-8003073-G-A, REVEL 0.34, ESM-1b 0.17
- G9G (p.Gly9Gly), gnomAD 17-8003074-T-C, CADD 13.70
- G10A (p.Gly10Ala), gnomAD rs1426615803, REVEL 0.16, ESM-1b 0.00
- G10R (p.Gly10Arg), gnomAD 17-8003075-G-A, REVEL 0.11, ESM-1b 0.00
- G10V (p.Gly10Val), gnomAD 17-8003076-G-T, REVEL 0.30, ESM-1b 0.00
- G10G (p.Gly10Gly), gnomAD 17-8003077-G-C, CADD 11.40
- L11F (p.Leu11Phe), gnomAD 17-8003074-TG-T, CADD 24.10
- L11I (p.Leu11Ile), gnomAD 17-8003078-C-A, REVEL 0.14, ESM-1b 0.21
- P12L (p.Pro12Leu), gnomAD rs1421146833, REVEL 0.17, ESM-1b 0.00
- P12S (p.Pro12Ser), TOPMed rs1211177711, gnomAD rs1211177711, REVEL 0.13, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; not provided
- P12R (p.Pro12Arg), gnomAD 17-8003082-C-G, REVEL 0.15, ESM-1b 0.00
- P12P (p.Pro12Pro), gnomAD 17-8003083-G-T, CADD 9.14
- D13G (p.Asp13Gly), gnomAD rs1373473769, REVEL 0.11, ESM-1b 0.00
- D13Y (p.Asp13Tyr), TOPMed rs1975658317, ESM-1b 0.00, AlphaMissense 0.10
- D13D (p.Asp13Asp), rs1457204461, gnomAD 17-8003086-C-T, CADD 10.50
- P14A (p.Pro14Ala), rs1975658549, ClinGen CA397942420, ClinVar RCV001198127, ClinVar RCV003770215, REVEL 0.17, ESM-1b 0.00, Uncertain significance, Choroidal dystrophy, central areolar, 1; Cone-rod dystrophy 6; Leber congenital
- P14L (p.Pro14Leu), TOPMed rs1975658634, REVEL 0.09, ESM-1b 0.00
- P14T (p.Pro14Thr), rs1975658549, ClinGen CA397942418, ClinVar RCV003809334, ESM-1b 0.00, AlphaMissense 0.05, Uncertain significance, Cone-rod dystrophy 6; Leber congenital amaurosis 1
- P14P (p.Pro14Pro), gnomAD 17-8003089-C-A, CADD 8.27
- G15R (p.Gly15Arg), TOPMed rs954746846, gnomAD rs954746846, REVEL 0.23, ESM-1b 0.00, Uncertain significance, Leber congenital amaurosis 1; Cone-rod dystrophy 6
- G15V (p.Gly15Val), TOPMed rs1230201505, ESM-1b 0.00, AlphaMissense 0.08
- G15W (p.Gly15Trp), gnomAD 17-8003090-G-T, REVEL 0.36, ESM-1b 0.00
- G15G (p.Gly15Gly), rs1342484355, gnomAD 17-8003092-G-T, CADD 7.77
- L16F (p.Leu16Phe), rs2545417245, ClinGen CA397942449, ClinVar RCV004388682, ESM-1b 0.00, AlphaMissense 0.07, Uncertain significance, Inborn genetic diseases
- L16S (p.Leu16Ser), gnomAD 17-8003085-AC-A, CADD 22.60
- L16I (p.Leu16Ile), gnomAD 17-8003093-C-A, REVEL 0.05, ESM-1b 0.59
- L16L (p.Leu16Leu), gnomAD 17-8003095-C-T, CADD 9.53
- C17* (p.Cys17Ter), rs2545417252, ClinGen CA397942474, ClinVar RCV003800805, CADD 34.00, Pathogenic
- C17R (p.Cys17Arg), rs1008930073, ClinGen CA287522837, ClinVar RCV001201774, ClinVar RCV002484079, REVEL 0.21, ESM-1b 0.00, Uncertain significance, Night blindness, congenital stationary, type1i; Choroidal dystrophy, central are
- C17S (p.Cys17Ser), TOPMed rs1008930073, gnomAD rs1008930073, REVEL 0.20, ESM-1b 0.00, Uncertain significance
- C17Y (p.Cys17Tyr), ExAC rs757041611, gnomAD rs757041611, REVEL 0.26, ESM-1b 0.64
- C17C (p.Cys17Cys), gnomAD 17-8003098-C-T, CADD 10.10
- G18D (p.Gly18Asp), gnomAD rs1405042954, REVEL 0.17, ESM-1b 0.00
- G18S (p.Gly18Ser), TOPMed rs1975659164, REVEL 0.13, ESM-1b 0.00
- G18C (p.Gly18Cys), gnomAD 17-8003099-G-T, REVEL 0.13, ESM-1b 0.00
- G18G (p.Gly18Gly), rs9905393, gnomAD 17-8003101-T-G, CADD 10.30
- P19L (p.Pro19Leu), Ensembl rs1598143702, REVEL 0.15, ESM-1b 0.00
- P19S (p.Pro19Ser), gnomAD 17-8003102-C-T, REVEL 0.24, ESM-1b 0.00
- P19H (p.Pro19His), gnomAD 17-8003103-C-A, REVEL 0.23, ESM-1b 0.47
- P19P (p.Pro19Pro), gnomAD 17-8003104-C-A, CADD 5.68
- A20G (p.Ala20Gly), TOPMed rs1340479662, gnomAD rs1340479662, ESM-1b 0.00, AlphaMissense 0.07, Uncertain significance
- A20S (p.Ala20Ser), Ensembl rs1017601312, ESM-1b 0.00, AlphaMissense 0.09
- A20V (p.Ala20Val), rs1340479662, ClinGen CA397942523, ClinVar RCV003377401, TOPMed rs1340479662, REVEL 0.23, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- A20T (p.Ala20Thr), gnomAD 17-8003105-G-A, REVEL 0.10, ESM-1b 0.00
- A20E (p.Ala20Glu), gnomAD 17-8003106-C-A, REVEL 0.19, ESM-1b 0.00
- A20A (p.Ala20Ala), rs1975659801, gnomAD 17-8003107-G-T, CADD 8.60
- W21* (p.Trp21Ter), TOPMed rs926004217, gnomAD rs926004217, CADD 33.00
- W21R (p.Trp21Arg), rs9905402, ClinGen CA145844, ClinVar RCV000078320, ClinVar RCV000084902, REVEL 0.14, ESM-1b 0.00, Benign, GUCY2D-related recessive retinopathy
- W21C (p.Trp21Cys), gnomAD 17-8003110-G-T, REVEL 0.11, ESM-1b 0.00
- W22* (p.Trp22Ter), rs1308509257, ClinGen CA397942558, ClinVar RCV001234701, gnomAD rs1308509257, CADD 35.00, Pathogenic
- W22R (p.Trp22Arg), gnomAD 17-8003111-T-C, REVEL 0.22, ESM-1b 0.00
- W22L (p.Trp22Leu), gnomAD 17-8003112-G-T, REVEL 0.26, ESM-1b 0.00
- W22C (p.Trp22Cys), gnomAD 17-8003113-G-T, REVEL 0.18, ESM-1b 0.00
- A23S (p.Ala23Ser), TOPMed rs1244515419, gnomAD rs1244515419, REVEL 0.11, ESM-1b 0.00, Uncertain significance, GUCY2D-related disorder
- A23L (p.Ala23Leu), gnomAD 17-8003111-TG-T, CADD 22.70
- A23T (p.Ala23Thr), gnomAD 17-8003114-G-A, REVEL 0.15, ESM-1b 0.00
- A23D (p.Ala23Asp), gnomAD 17-8003115-C-A, REVEL 0.26, ESM-1b 0.00
- A23A (p.Ala23Ala), rs937378694, gnomAD 17-8003116-T-A, CADD 8.11
- P24L (p.Pro24Leu), gnomAD rs1438692183, REVEL 0.20, ESM-1b 0.00
- P24Q (p.Pro24Gln), gnomAD 17-8003118-C-A, REVEL 0.16, ESM-1b 0.35
- P24P (p.Pro24Pro), rs1901446291, gnomAD 17-8003119-G-A, CADD 6.29
- S25F (p.Ser25Phe), rs557108466, ClinGen CA8365468, ClinVar RCV000512972, ClinVar RCV000787615, REVEL 0.15, ESM-1b 0.00, Benign, GUCY2D-related recessive retinopathy
- S25P (p.Ser25Pro), gnomAD 17-8003120-T-C, REVEL 0.19, ESM-1b 0.00
- S25S (p.Ser25Ser), gnomAD 17-8003122-C-A, CADD 5.93
- L26L (p.Leu26Leu), rs1739560362, gnomAD 17-8003123-C-T, CADD 5.25
- L26M (p.Leu26Met), gnomAD 17-8003123-C-A, REVEL 0.18, ESM-1b 0.00
- P27S (p.Pro27Ser), gnomAD 17-8003126-C-T, REVEL 0.17, ESM-1b 0.00
- P27H (p.Pro27His), gnomAD 17-8003127-C-A, REVEL 0.16, ESM-1b 0.92
- P27P (p.Pro27Pro), gnomAD 17-8003128-C-A, CADD 5.31
- R28C (p.Arg28Cys), TOPMed rs1391079477, REVEL 0.24, ESM-1b 0.00
- R28A (p.Arg28Ala), gnomAD 17-8003125-GC-G, CADD 17.40
- R28S (p.Arg28Ser), gnomAD 17-8003129-C-A, REVEL 0.12, ESM-1b 0.00
- R28L (p.Arg28Leu), gnomAD 17-8003130-G-T, REVEL 0.16, ESM-1b 0.00
- R28H (p.Arg28His), gnomAD 17-8003130-G-A, REVEL 0.15, ESM-1b 0.00
- R28R (p.Arg28Arg), gnomAD 17-8003131-C-A, CADD 3.79
- L29F (p.Leu29Phe), rs1975660689, ClinGen CA397942664, ClinVar RCV002914522, Ensembl rs1975660689, REVEL 0.09, ESM-1b 0.25, Uncertain significance, Leber congenital amaurosis 1; Cone-rod dystrophy 6
- L29R (p.Leu29Arg), Ensembl rs2151799222, ESM-1b 0.00, AlphaMissense 0.07
- L29H (p.Leu29His), gnomAD 17-8003133-T-A, REVEL 0.27, ESM-1b 0.00
- L29P (p.Leu29Pro), gnomAD 17-8003133-T-C, REVEL 0.13, ESM-1b 0.00
- L29L (p.Leu29Leu), rs920824717, gnomAD 17-8003134-C-G, CADD 4.08
- P30S (p.Pro30Ser), gnomAD rs1975660953, REVEL 0.10, ESM-1b 0.00, Uncertain significance, not provided
- P30T (p.Pro30Thr), gnomAD 17-8003135-C-A, REVEL 0.05, ESM-1b 0.48
- P30L (p.Pro30Leu), gnomAD 17-8003136-C-T, REVEL 0.12, ESM-1b 0.00
- P30H (p.Pro30His), gnomAD 17-8003136-C-A, REVEL 0.21, ESM-1b 0.53
- P30P (p.Pro30Pro), gnomAD 17-8003137-C-T, CADD 6.60
- R31G (p.Arg31Gly), rs1285350603, ClinGen CA397942688, ClinVar RCV002949407, TOPMed rs1285350603, REVEL 0.21, ESM-1b 0.00, Uncertain significance, Leber congenital amaurosis 1; Cone-rod dystrophy 6; not provided
- R31Q (p.Arg31Gln), rs1484916911, ClinGen CA397942692, ClinVar RCV002629301, TOPMed rs1484916911, REVEL 0.16, ESM-1b 0.00, Uncertain significance, Cone-rod dystrophy 6; Leber congenital amaurosis 1
- R31W (p.Arg31Trp), TOPMed rs1285350603, gnomAD rs1285350603, REVEL 0.24, ESM-1b 0.00, Uncertain significance
- p.Arg31 Pro37del, rs1567956884, gnomAD 17-8003120-TCCCTG, CADD 13.60
- R31P (p.Arg31Pro), rs61749663, gnomAD 17-8003133-T-TC, CADD 19.20
- R31R (p.Arg31Arg), gnomAD 17-8003138-C-A, CADD 4.44
- R31L (p.Arg31Leu), gnomAD 17-8003139-G-T, REVEL 0.18, ESM-1b 0.00
- A32D (p.Ala32Asp), Ensembl rs1975661198, REVEL 0.22, ESM-1b 0.58
- A32S (p.Ala32Ser), gnomAD 17-8003141-G-T, REVEL 0.13, ESM-1b 0.00
- A32T (p.Ala32Thr), gnomAD 17-8003141-G-A, REVEL 0.14, ESM-1b 0.00
- A32G (p.Ala32Gly), gnomAD 17-8003142-C-G, REVEL 0.11, ESM-1b 0.00
- A32V (p.Ala32Val), gnomAD 17-8003142-C-T, REVEL 0.14, ESM-1b 0.00
- A32A (p.Ala32Ala), gnomAD 17-8003143-C-G, CADD 4.49
- L33Q (p.Leu33Gln), rs755150485, ClinGen CA8365469, ClinVar RCV001327133, ClinVar RCV002546213, REVEL 0.12, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; Cone-rod dystrophy 6; Leber congenital amaurosis 1
- L33R (p.Leu33Arg), rs755150485, ClinGen CA397942720, ClinVar RCV002772377, ESM-1b 0.00, AlphaMissense 0.09, Uncertain significance, Inborn genetic diseases
- L33V (p.Leu33Val), gnomAD 17-8003144-C-G, REVEL 0.05, ESM-1b 0.00
- L33M (p.Leu33Met), gnomAD 17-8003144-C-A, REVEL 0.05, ESM-1b 0.00
- L33L (p.Leu33Leu), gnomAD 17-8003144-C-T, CADD 7.79
- L33P (p.Leu33Pro), gnomAD 17-8003145-T-C, REVEL 0.20, ESM-1b 0.00
- P34H (p.Pro34His), ExAC rs781514479, TOPMed rs781514479, gnomAD rs781514479, REVEL 0.15, ESM-1b 0.91
- P34R (p.Pro34Arg), ExAC rs781514479, TOPMed rs781514479, gnomAD rs781514479, ESM-1b 0.00, AlphaMissense 0.09
- P34S (p.Pro34Ser), gnomAD 17-8003147-C-T, REVEL 0.18, ESM-1b 0.00
- P34T (p.Pro34Thr), gnomAD 17-8003147-C-A, REVEL 0.13, ESM-1b 0.45
- P34L (p.Pro34Leu), gnomAD 17-8003148-C-T, REVEL 0.20, ESM-1b 0.00
- P34P (p.Pro34Pro), rs1262337868, gnomAD 17-8003149-C-T, CADD 6.18
- R35G (p.Arg35Gly), rs1423033093, ClinGen CA397942742, ClinVar RCV002029335, ClinVar RCV003289391, REVEL 0.18, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; Leber congenital amaurosis 1; Cone-rod dystrophy 6
- R35L (p.Arg35Leu), rs748156659, ClinGen CA397942749, ClinVar RCV001209241, ExAC rs748156659, REVEL 0.15, ESM-1b 0.00, Uncertain significance, Cone-rod dystrophy 6; Leber congenital amaurosis 1
- R35Q (p.Arg35Gln), ExAC rs748156659, TOPMed rs748156659, gnomAD rs748156659, REVEL 0.13, ESM-1b 0.00, Uncertain significance, not provided
- R35W (p.Arg35Trp), 1000Genomes rs1423033093, TOPMed rs1423033093, gnomAD rs1423033093, REVEL 0.16, ESM-1b 0.00, Uncertain significance
- R35R (p.Arg35Arg), gnomAD 17-8003150-C-A, CADD 1.76
- L36I (p.Leu36Ile), gnomAD 17-8003153-C-A, REVEL 0.11, ESM-1b 1.00
- L36V (p.Leu36Val), gnomAD 17-8003153-C-G, REVEL 0.11, ESM-1b 0.16
- L36F (p.Leu36Phe), gnomAD 17-8003153-C-T, REVEL 0.26, ESM-1b 1.00
- L36P (p.Leu36Pro), gnomAD 17-8003153-CT-C, CADD 20.60
- L36L (p.Leu36Leu), gnomAD 17-8003155-C-A, CADD 5.24
- P37A (p.Pro37Ala), TOPMed rs1759349967, REVEL 0.19, ESM-1b 0.00, Uncertain significance, not provided
- P37Q (p.Pro37Gln), gnomAD rs1424853491, REVEL 0.18, ESM-1b 0.22, Uncertain significance
- P37R (p.Pro37Arg), rs1424853491, ClinGen CA397942772, ClinVar RCV002301342, REVEL 0.17, ESM-1b 0.00, Uncertain significance, Cone-rod dystrophy 6; Leber congenital amaurosis 1
- p.Pro37 Leu38del, gnomAD 17-8003151-GGCTCC, CADD 9.34
- P37S (p.Pro37Ser), gnomAD 17-8003156-C-T, REVEL 0.18, ESM-1b 0.00
- P37L (p.Pro37Leu), gnomAD 17-8003157-C-T, REVEL 0.14, ESM-1b 0.00
- P37P (p.Pro37Pro), rs1157641159, gnomAD 17-8003158-G-A, CADD 5.27
- L38F (p.Leu38Phe), rs1342972910, ClinGen CA397942776, ClinVar RCV003780236, gnomAD rs1342972910, REVEL 0.12, ESM-1b 0.81, Uncertain significance, Cone-rod dystrophy 6; Leber congenital amaurosis 1; not provided
- L38I (p.Leu38Ile), gnomAD 17-8003159-C-A, REVEL 0.09, ESM-1b 1.00
- L38L (p.Leu38Leu), gnomAD 17-8003161-C-A, CADD 1.72
- L39P (p.Leu39Pro), TOPMed rs1316383527, gnomAD rs1316383527, REVEL 0.38, ESM-1b 0.00, Uncertain significance, not provided
- L39R (p.Leu39Arg), TOPMed rs1316383527, gnomAD rs1316383527, REVEL 0.39, ESM-1b 1.00
- L39L (p.Leu39Leu), gnomAD 17-8003164-G-A, CADD 5.19
- L40Q (p.Leu40Gln), Ensembl rs1975662121, ESM-1b 1.00, AlphaMissense 0.21
- L40M (p.Leu40Met), gnomAD 17-8003165-C-A, REVEL 0.28, ESM-1b 1.00
- L40L (p.Leu40Leu), gnomAD 17-8003165-C-T, CADD 5.64
- L40P (p.Leu40Pro), gnomAD 17-8003166-T-C, REVEL 0.60, ESM-1b 0.00
- L41F (p.Leu41Phe), rs61749664, ClinGen CA226039, ClinVar RCV000084829, ClinVar RCV001227542, REVEL 0.48, ESM-1b 1.00, Uncertain significance, GUCY2D-related disorder; Choroidal dystrophy, central areolar, 1; Cone-rod dystr
- L41P (p.Leu41Pro), gnomAD rs1363193636, REVEL 0.34, ESM-1b 0.13
- L41I (p.Leu41Ile), gnomAD 17-8003168-C-A, REVEL 0.19, ESM-1b 1.00
- L41V (p.Leu41Val), gnomAD 17-8003168-C-G, REVEL 0.15, ESM-1b 0.81
- L41L (p.Leu41Leu), gnomAD 17-8003170-C-T, CADD 3.84
- L42P (p.Leu42Pro), TOPMed rs1201747201, gnomAD rs1201747201, REVEL 0.55, ESM-1b 0.17
Public GUCY2D analysis runs
- GUCY2D analysis run — GUCY2D (2,034 variants) — completed 2026-10-09